Bicuspid aortic valve: anatomy, physiopathology, clinical presentations


Professor W. Delyagin(1), MD; K. Amir-Zade(2)
1-Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology, Moscow
2-N.I. Pirogov Russian National Research Medical University, Ministry of Health
of Russia, Москва

The bicuspid aortic valve (AoV) (BAV) occurs in about 1% of the population, while the probability of its observation in first-degree relatives is 9-10%. Familial aortic aneurysm in BAV is inherited as an autosomal dominant disease with incomplete penetrance. BAV accompanies connective tissue dysplasia, congenital cardiovascular defects, aortic coarctation, Turner syndrome, etc., is frequently concurrent with cardiac arrhythmias, general somatic, and neuropsychiatric disorders. The basis of diagnosis is transthoracic echocardiography (EchoCG). If needed, transesophageal EchoCG, magnetic resonance imaging and/or computed tomography of the heart are performed. Persons with BAV, even without stenosis or valve insufficiency, are frequently recorded to have dilation of the ascending aorta and/or its root. Aortic dilation may occur many years after the detection of BAV, more often in valve insufficiency. Abnormal systolic blood flow through the BAV leads to regional aortic wall tension and promotes the development of aortopathy that is manifested as aortic aneurysm and dissection. Arthropathy develops in the presence of cystic media damage, activation of matrix metalloproteinases, and apoptosis. The aim of interdisciplinary management in patients with BAV is the prevention of circulatory disorders, the early detection of complications and the identification of a group of patients to be referred to cardiac surgeons. Taking into account the fact aortic aneurysm may develop late, therapeutic monitoring should be continued after surgical correction of valve abnormality. During a follow-up, BAV should be considered as a manifestation of the systemic process.

bicuspid aortic valve
connective tissue dysplasia
congenital defects
interdisciplinary and interprofessional follow-up.

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